neurodevelopmental impairment
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Medicina ◽  
2022 ◽  
Vol 58 (1) ◽  
pp. 133
Author(s):  
Domenico M. Romeo ◽  
Martina Ricci ◽  
Federica Mirra ◽  
Ilaria Venezia ◽  
Maria Mallardi ◽  
...  

Background and Objectives: Preterm infants are at higher risk of neurodevelopmental impairment both at preschool and school ages, even in the absence of major neurological deficits. The early identification of children at risk is essential for early intervention with rehabilitation to optimize potential outcomes during school years. The aim of our study is to assess cognitive outcomes at preschool age in a cohort of low-risk very preterm infants, previously studied at 12 and 24 months using the Griffiths scales. Materials and Methods: Sixty-six low-risk very preterm infants born at a gestational age of <32 weeks were assessed at 12 and 24 months corrected age using the Griffiths Mental Development Scales (second edition) and at preschool age with the Wechsler Preschool and Primary Scales of Intelligence (third edition) (WPPSI-III). Results: At 12 and 24 months and at preschool age, low-risk very preterm infants showed scores within normal ranges with similar scores in males and females. A statistically significant correlation was observed in the general developmental quotient between 12 and 24 months; a further significant correlation was observed between the early cognitive assessments and those performed at preschool age, with a better correlation using the assessments at 24 months. Conclusion: The present study showed a favourable trajectory of cognitive development in low-risk very preterm infants, from 12 months to preschool age.


2022 ◽  
Vol 48 (1) ◽  
Author(s):  
Jong Ho Cha ◽  
Jung-Sun Lim ◽  
Yong Hun Jang ◽  
Jae Kyoon Hwang ◽  
Jae Yoon Na ◽  
...  

Abstract Background Necrotizing enterocolitis (NEC) is a devastating disease in preterm infants with significant morbidities, including neurodevelopmental impairment (NDI). This study aimed to investigate whether NEC is associated with (1) brain volume expansion and white matter maturation using diffusion tensor imaging analysis and (2) NDI compared with preterm infants without NEC. Methods We included 86 preterm infants (20 with NEC and 66 without NEC) with no evidence of brain abnormalities on trans-fontanelle ultrasonography and magnetic resonance imaging at term-equivalent age (TEA). Regional brain volume analysis and white matter tractography were performed to study brain microstructure alterations. NDI was assessed using the Bayley Scales of Infant and Toddler Development-III (BSID-III) at 18 months of corrected age (CA). Results Preterm infants with NEC showed significantly high risk of motor impairment (odds ratio 58.26, 95% confidence interval 7.80–435.12, p < 0.001). We found significantly increased mean diffusivity (MD) in the splenium of corpus callosum (sCC) (p = 0.001) and the left corticospinal tract (p = 0.001) in preterm infants with NEC. The sCC with increased MD showed a negative association with the BSID-III language (p = 0.025) and motor scores (p = 0.002) at 18 months of CA, implying the relevance of sCC integrity with later NDI. Conclusion The white matter microstructure differed between preterm infants with and without NEC. The prognostic value of network parameters of sCC at TEA may provide better information for the early detection of NDI in preterm infants.


Genes ◽  
2021 ◽  
Vol 13 (1) ◽  
pp. 92
Author(s):  
Hesham Aldhalaan ◽  
Albandary AlBakheet ◽  
Sarah AlRuways ◽  
Nouf AlMutairi ◽  
Maha AlNakiyah ◽  
...  

Pathogenic variants in GEMIN4 contribute to a hereditary disorder characterized by neurodevelopmental features, microcephaly, cataracts, and renal abnormalities (known as NEDMCR). To date, only two homoallelic variations have been linked to the disease. Moreover, clinical features associated with the variants have not been fully elucidated yet. Here, we identified a novel variant in GEMIN4 (NM_015721:exon2:c.440A>G:p.His147Arg) in two siblings from a consanguineous Saudi family by using whole exome sequencing followed by Sanger sequence verification. We comprehensively investigated the patients’ clinical features, including brain imaging and electroencephalogram findings, and compared their phenotypic characteristics with those of previously reported cases. In silico prediction and structural modeling support that the p.His147Arg variant is pathogenic.


2021 ◽  
Vol 9 ◽  
Author(s):  
Yoshihiko Shitara ◽  
Satsuki Kakiuchi ◽  
Takeo Mukai ◽  
Kohei Kashima ◽  
Motohiro Kato ◽  
...  

Reports on the birth of infants weighing &lt;300 g are quite rare and little is known about the best practices in treating such micropreemies. Therefore, we report here on three cases of low birthweight infants weighing &lt;300 g, of whom two infants survived. The birthweights and gestational ages were ranging 279–293 g and 22 + 6/7 – 23 + 6/7 weeks, respectively. All the infants had severe fetal growth restriction and prematurity. The infant in case 1 died of hepatic rupture, perhaps due to birth trauma, which emphasized the need for less invasive obstetric procedures including en caul delivery. The infant in case 2 managed to survive through severe prematurity secondary to hydrops fetalis. However, complications followed soon as tracheal granulation tissue was formed with neurodevelopmental impairment. The infant in case 3 was born recently and her clinical course was less remarkable without severe complications, despite having the least gestational age and birthweight among the three patients. The improved care protocols for extremely low birthweight infants over these years through experiential learning including that with cases 1 and 2 may have ensured the better outcome of case 3. Accumulating evidence and recording the experience of such cases with continuous constructive discussion can contribute to better outcomes and appropriate parental counseling for extremely small babies in the future.


EBioMedicine ◽  
2021 ◽  
Vol 73 ◽  
pp. 103657
Author(s):  
Mari Merce Cascant-Vilaplana ◽  
Máximo Vento

2021 ◽  
Vol 8 (Supplement_1) ◽  
pp. S685-S685
Author(s):  
Margaret R Jia ◽  
Alexandra K Medoro ◽  
Traci Pifer ◽  
Manish Rijal ◽  
Teresa Borghese ◽  
...  

Abstract Background cCMV infection is a major contributor to childhood neurologic and cognitive disabilities including sensorineural hearing loss (SNHL). Neonatal treatment with ganciclovir/valganciclovir improves hearing outcomes, but its impact on neurodevelopmental outcomes remains an important knowledge gap. We describe the neurodevelopmental outcomes of children with cCMV infection and evaluate the effect of neonatal antiviral therapy on outcomes. Methods Since 2013, infants with cCMV infection referred to Nationwide Children’s Hospital’s NEO-ID Clinic have had a complete evaluation at diagnosis as well as follow-up neurodevelopmental assessments. Pertinent demographic, clinical, laboratory, radiographic, and follow-up data were obtained and managed using REDCap. Neurodevelopmental assessments were performed using Bayley Scales of Infant and Toddler Development (BSID) III/IV (cognitive, language, motor domains) at ~ 24 months of age. The Gross Motor Function Classification System was used to classify functional motor impairment. Neurodevelopmental outcomes were compared by receipt of antiviral therapy in early infancy. Results 95 infants (mean ± SD; gestational age 35 ± 5 wk, birth weight 2121 ± 948 g; Table 1) with cCMV infection had follow-up neurodevelopmental assessments. 62% had central nervous system involvement, 37% had SNHL, 23% developed cerebral palsy (CP), and 6% were diagnosed with autism spectrum disorder. The majority had normal BSID scores (≥ 85) in cognitive and motor domains (65% and 54%, respectively) while 48% had normal scores in the language domain. 35% had severe impairment (&lt; 70) in ≥ 1 domain (Table 2). 9 children had clinically inapparent cCMV infection; 2 (22%) had abnormalities on BSID testing (1, cognitive score: 80; 1, cognitive, language, and motor scores: 65, 68, 73, respectively). 11 (12%) children, including 6 who received antiviral therapy, had severe neurodevelopmental impairment, with CP and severe (&lt; 70) BSID scores in both the cognitive and motor domains. Table 1. Demographic and Clinical Characteristics of 95 Children with Congenital CMV Infection by Receipt of Antiviral Treatment Table 2. Neurodevelopmental Outcomes Based on Testing with the Bayley Scales of Infant and Toddler Development (BSID) III/IV Conclusion A substantial proportion of children with cCMV infection had moderate (29%) or severe (33%) neurodevelopmental impairment, CP, or autism spectrum disorder, irrespective of antiviral treatment. Urgency exists for antenatal preventive strategies and vaccine development. Disclosures Asuncion Mejias, MD, PhD, MsCS, Janssen (Grant/Research Support, Advisor or Review Panel member)Merck (Grant/Research Support, Advisor or Review Panel member)Roche (Advisor or Review Panel member)Sanofi (Advisor or Review Panel member)


2021 ◽  
Vol 40 (6) ◽  
pp. 406-413
Author(s):  
Keliana O'Mara ◽  
Christopher McPherson

Hypoxic-ischemic encephalopathy (HIE) remains a significant source of long-term neurodevelopmental impairment despite overall improvements in survival without disability in neonates who undergo therapeutic hypothermia. Each phase in the evolution of hypoxic-ischemic injury presents potential pharmacologic targets for neuroprotective agents. Melatonin is a promising emerging therapy for early phases of ischemic injury, but utility is currently limited by the lack of pharmaceutical-grade products. Magnesium has been extensively studied for its neuroprotective effects in the preterm population. Studies in neonates with HIE have produced mixed outcomes. Erythropoietin use in HIE with or without therapeutic hypothermia appears to be safe and may provide additional benefit. Dexmedetomidine, N-acetylcysteine, xenon, and topiramate all have promising animal data, but need additional human trials to elucidate what role they may play in HIE. Frequent review of existing literature is required to ensure provision of evidence-based pharmacologic agents for neuroprotection following HIE.


2021 ◽  
Vol 12 ◽  
Author(s):  
Wenjie Chen ◽  
Fei Chen ◽  
Yiping Shen ◽  
Zhixian Yang ◽  
Jiong Qin

Background: Contactin 2, encoded by CNTN2 on chromosome 1q32.1, is a neural-specific glycoprotein and plays important roles in neurodevelopment. A deleterious homozygous variant in the CNTN2 gene was previously reported to cause autosomal recessive cortical myoclonic tremor and epilepsy. Since then, there has been no further report confirming the association of CNTN2 and epilepsy. Here, we reported one new case, who presented with epilepsy, carrying a novel homozygous frameshift variant in CNTN2. The clinical and genetic features of the patient were reviewed.Case presentation: The male patient presented with preschool age-of-onset neurodevelopmental impairment and focal seizures of temporal origin, and responded to valproate. A trio-whole exome sequencing revealed a novel homozygous frameshift variant in CNTN2 (c.2873_c.2874delCT, p.Thr958Thrfs). The patient’s mother was a heterozygous carrier while his father was wild-type; they were both unaffected and non-consanguineous. Further study revealed that maternal uniparental disomy (1q32.1) unmasked the heterozygous variant of CNTN2 in the proband.Conclusions: This case enhanced the gene–disease relationship between CNTN2 and epilepsy, which will help to further understand this emerging disorder.


2021 ◽  
Vol 26 (Supplement_1) ◽  
pp. e46-e47
Author(s):  
M Florencia Ricci ◽  
Prakesh Shah ◽  
Diane Moddemann ◽  
Ruben Alvaro ◽  
Eugene Ng ◽  
...  

Abstract Primary Subject area Neonatal-Perinatal Medicine Background Quality improvement programs across Canadian Neonatal Network (CNN) sites have led to increased neonatal survival without major neonatal morbidity among infants born extremely preterm. The next step is to determine if such activities impact longer-term survival and neurodevelopmental outcomes. Objectives This cohort study aimed to compare death or significant neurodevelopmental impairment (sNDI) (Bayley-III scores &lt; 70, severe cerebral palsy, blind, or hearing aided) at 18-24 months corrected age among infants born &lt; 29 weeks’ gestation admitted to CNN sites, between 2 Epochs: 1 (2009-2012) and 2 (2013-2016). Secondary objectives included death or neurodevelopmental impairment (NDI) (Bayley-III &lt; 85, any cerebral palsy, visual or hearing impairment), death, sNDI, NDI, and components of neurodevelopmental impairment. Design/Methods Only sites with ≥ 70% follow-up rates were included. Differences in maternal-infant characteristics and neonatal morbidities were assessed by Pearson Chi-square and Student t-test testing. Adjusted odds ratios with 95% CIs were calculated for outcome change between the 2 Epochs, accounting for patient characteristic differences in the model. Results Study population included 4426 children; Epoch 1: 1895 (43%) and Epoch 2: 2531 (57%). In Epoch 2, more mothers received MgSO4 (56.3% vs. 28.4%; p&lt;0.01), antibiotics (69%vs.65.3%; p 0.01) and delayed cord clamping (37.1% vs. 31.3%; p 0.02), and fewer infants had SNAP-2 (illness severity score) &gt;20 (30.7% vs. 35.2%; p&lt;0.01) or late-onset sepsis (23.3% vs. 26.9%; p 0.01). See Table 1. Conclusion Significant reductions in rate of death or sNDI, and in visual and hearing impairment, were identified between Epoch 2 to Epoch 1. An increase in poor cognitive outcome rates requires further study.


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